Myopathy Due to Cpt Ii Deficiency malady
Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
OMIM:46 Carnitine palmitoyltransferase II deficiency is the most common inherited disorder of mitochondrial long-chain fatty...255110 more...
MalaCards based summary: Myopathy Due to Cpt Ii Deficiency, is also known as carnitine palmitoyl transferase deficiency type 2, adult-onset form, and has symptoms including muscle weakness, myopathy and myalgia. An important gene associated with Myopathy Due to Cpt Ii Deficiency is CPT2 (carnitine palmitoyltransferase 2).
Myopathy Due to Cpt Ii Deficiency, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases
Characteristics (Orphanet epidemiological data):48
carnitine palmitoyl transferase deficiency type 2, adult-onset form:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Normal
Symptoms by clinical synopsis from OMIM:255110
Clinical features from OMIM:255110
Symptoms:48 (show all 8)
HPO human phenotypes related to Myopathy Due to Cpt Ii Deficiency:(show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Myopathy Due to Cpt Ii Deficiency:63 (show all 20)
Clinvar genetic disease variations for Myopathy Due to Cpt Ii Deficiency:7
Search GEO for disease gene expression data for Myopathy Due to Cpt Ii Deficiency.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet